Results 61 to 70 of about 1,621 (210)

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

A novel nonsense mutation of EXT1 gene in an Argentinian patient with Multiple Hereditary Exostoses [PDF]

, 2012
Multiple hereditary exostoses (MHE), also known as multiple osteochondromatosis, is an autosomal-dominant O-linked glycosylation disorder recently classified as EXT1/EXT2-CDG in the congenital disorder of glycosylation (CDG)nomenclature.
Asteggiano, Carla Gabriela, Azar, Nydia Beatríz, Balcells, Susana, Delgado, María Andrea, Dodelson de Kremer, Raquel, Grinberg Vaisman, Daniel Raúl, Robledo, Hector Hugo, Sarrión, Patricia, Segura, Florencio Vicente, Zecchini, Lorena del Valle   +9 more
core   +1 more source

Primary Chest Wall Ewing Sarcoma With Diaphragmatic Invasion in an Adult: En‐Bloc Resection and Polypropylene Mesh Reconstruction

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Chest‐wall Ewing sarcoma (CWES) is uncommon in adults and often abuts vital thoracic structures, making R0 resection challenging despite gains with multimodal therapy. A 46‐year‐old Arab male presented with year‐long right‐sided chest pain, weight loss, and a firm mass over the lower right ribs.
Mohammad Alaa Aldakak, Ahmad Al‐Bitar, Raneem Ahmad, Hamza Alhallaq, Kinda Assoud, Hussain Chaban   +5 more
wiley   +1 more source

Palovarotene Inhibits Osteochondroma Formation in a Mouse Model of Multiple Hereditary Exostoses [PDF]

Journal of Bone and Mineral Research, 2017
ABSTRACT   Multiple hereditary exostoses (MHE), also known as multiple osteochondromas (MO), is an autosomal dominant disorder characterized by the development of multiple cartilage-capped bone tumors (osteochondromas).
Toshihiro, Inubushi, Isabelle, Lemire, Fumitoshi, Irie, Yu, Yamaguchi   +3 more
openaire   +2 more sources

Cervical Myelopathy Due to an Osteochondroma in Multiple Hereditary Exostosis

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Hereditary multiple exostosis is a rare genetic condition characterized by the development of multiple exostoses. Vertebral localization is rare, less than 7%. Spinal cord compression in hereditary multiple exostosis is a rare condition. We report the case of a 22‐year‐old man with cervical spinal cord compression due to an osteochondroma with ...
Géraud Garcia Segbedji, Cédric Dongmo Mayopa, Xavier Banse, Pierre-Louis Docquier, Shashank Kaushik   +4 more
wiley   +1 more source

Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA

Human Mutation, Volume 2026, Issue 1, 2026.
Preimplantation genetic testing (PGT) represents a crucial strategy in the prevention of monogenic disorders, ensuring that only embryos free from these genetic conditions are implanted during assisted reproductive technologies. By analyzing the type of haplotypes of the variation of the probands or the carriers, we can significantly enhance the ...
Defeng Shu, Yi Liu, Xiaoli Wang, Tao Liang, Zubo Wu, Priya Gusain   +5 more
wiley   +1 more source

Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines

eJHaem, Volume 6, Issue 6, December 2025.
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Michelle A. E. Brouwer, Arie Arensman, H. Rob Taal, Emilie P. Buddingh, Su Ming Sun, Anthon Hulsmann, Lenneke Waals‐Prinzen   +6 more
wiley   +1 more source

Congenital multiple exostoses with congenital heart disease

Medical Journal of Dr. D.Y. Patil University, 2017
Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases.
Ibrahim Aliyu, Teslim O Lawal
doaj   +1 more source

Rapid detection of carriers with and mutations using high resolution melting analysis [PDF]

, 2008
Background Germline inactivating mutations in BRCA1 and BRCA2 underlie a major proportion of the inherited predisposition to breast and ovarian cancer. These mutations are usually detected by DNA sequencing. Cost-effective and rapid methods to screen for
Elena A Takano, Gillian Mitchell, Stephen B Fox, Alexander Dobrovic, GH Reed, JP Struewing, S Neuhausen, BB Roa, B Gorski, IV Tereschenko, J Backe, I Konstantopoulou, E Machackova, T Anagnostopoulos, AR Solano, M Krypuy, M Krypuy, HA Risch, T Wagner, LS Chou, L Lonie, RL Margraf, ML Kennerson, J Montgomery, LC Gowen, SD Dufresne   +25 more
core   +2 more sources

Musculoskeletal Diseases: Mechanisms and Therapeutic Advances

MedComm, Volume 6, Issue 12, December 2025.
Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma, Eloy Yinwang, Xupeng Chai, Fangqian Wang, Zehao Chen, Shengdong Wang, Hao Zhou, Yucheng Xue, Jiangchu Lei, Fanglu Chen, Hengyuan Li, Shixin Chen, Shenzhi Zhao, Kelei Wang, Liang Chen, Junjie Gao, Zhaoming Ye, Nong Lin   +17 more
wiley   +1 more source